docs think i may have Wilson's disease...im 29...and a mommy most importantly. symptoms started about 7-8 weeks ago...just woke up one morning and it was kinda hard to turn m y head to the right, and it would jerk itself back to the left, and it has a dystonic pulling thing going on, only to the left, imagine ear being pulled toward shoulder..and the same morning i started to have tremors in my hands, and really bad in my legs..here is what weird, it only happens when i use my hands and legs, if i am sitting perfectly still, no tremors. i can barely go down stairs at this point due to my legs shaking. does this sound like wilsons?? i also seen a eye doc who "says" he sees a crescent of the k-f ring in my right eye.. i am so confused, and worried, more for my kids, they need their momma. i just wanna feel like me again. please help, any info would be greatly appreciated. i wanted to add that there has been no change to the tremors or the things going on with my neck, its still the same as the day it atarted, as far as i can tell.
How are you? Wilson disease is a rare inherited disorder that causes the body to retain copper. The most characteristic sign is a rusty brown ring around the cornea of the eye.The diagnosis of Wilson disease is made by opthalmalogic slit lamp examination for Kayser-Fleischer rings, serum ceruloplasmin test, 24-hour urine copper test, liver biopsy for histology and histochemistry and copper quantification and genetic testing. To confirm the diagnosis, these tests need to be performed. With early detection and proper treatment, a person with Wilson disease can enjoy normal health. Take care and do keep us posted.
so my copper blood test come back normal, but they found that my thyroid is really low, low b12, and folic acid levels are low. they put me on meds for the thyroid thyroxine i believe, and b12 and folic sups. can these things cause my symptoms? can low thyroid and b12 cause what looks like dysonia and tremors? oh, i also have low blood sugar, doctor said to restrict copper till i have more tests, restrict carbs, and take my meds.
Thanks for the update. It is good to know that the copper blood test was normal. However, further tests may need to be done for proper evaluation. Electrolyte imbalance and thyroid dysfunction may sometimes present with tremors. It is best to take your medications as prescribed and to discuss the results with your attending physician for proper management. Take care and hope to hear from you any updates. Take care!
hi, sorry for such a long time between replies! still all the same symptoms, no improvement on ALL the vitamins, and levothyroxine. im so frustrated..i just added magnesium, and pot, hoping for an improvement...what should i be asking doctors>> my vitamin d was very low, but calcium was 13!! strange, maybe parathyroidism? i have little muscle twitches all over my body, my arms and legs still have the shakes, when i lift them up ansupported, they shake like crazy, feel very weak. please, any advice asuggestion id greatly appreciated!! lastly, this doesnt sound like ALS? please say no :)
i forgot to add that my creatnine levels came back low, but i dont think that means anything other than ppl with als have high levels..so a good thing..but, it makes me worry again about wilsons disease, also, my toenails look a bit purple?? crazy i know.
Good to hear from you again! I'm sorry to hear though that the symptoms are still the same and there is no improvement at all. Hypercalcemia may indeed be attributed to over activity in one or more of the parathyroid glands, which regulate blood calcium levels. Other causes include some medications and excessive use of calcium and vitamin D supplements and other medical conditions like hyperthyroidism. Mild hypercalcemia may be asymptomatic while severe type may present with muscle weakness, muscle and joint aches, confusion, lethargy and fatigue. Females usually have a lower creatinine levels than males, because of lesser muscle mass. No one test can diagnose ALS, full medical history and a complete neurologic examination by your doctor is essential. Take care always.
i was just looking for a little reassurance that it is unlikely that i have ALS. im young, female, i think that makes it unlikely, correct? also the weakness has not progressed at all from the day it started. im thinking its more like tremors in my proximal muscles verses weakness. my main complaint is my neck, it pulls to the left, and sometimes i have these lightnening fast jerks to the right..something like cervical dystonia?
Established risk factors for ALS include heredity, age ( most commonly occurs in the 40-60 age group), and sex (before age 65, more men are said to develop ALS than women). It can also be triggered by factors such as smoking and lead exposure. In your case, the chance is indeed small especially if you do not satisfy these risk factors. Physical examination alone can confirm a diagnosis of cervical dystonia, but additional diagnostic tests such as blood or urine tests,MRI, and Electromyography (EMG) may also be indicated. Best regards.
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